NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)
|
rs1805082
|
0.49943
|
NM_000271.5(NPC1):c.2793C>T (p.Asn931=)
|
rs1140458
|
0.45824
|
NM_000271.5(NPC1):c.644A>G (p.His215Arg)
|
rs1805081
|
0.29390
|
NM_000271.5(NPC1):c.387T>C (p.Tyr129=)
|
rs12970899
|
0.13133
|
NM_000271.5(NPC1):c.-32C>T
|
rs114070977
|
0.00885
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)
|
rs34084984
|
0.00352
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_000271.5(NPC1):c.463+19A>G
|
rs117512587
|
0.00252
|
NM_000271.5(NPC1):c.3592-42G>C
|
rs149111199
|
0.00228
|
NM_000271.5(NPC1):c.881+82G>A
|
rs562046566
|
0.00106
|
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)
|
rs141440861
|
0.00105
|
NM_000271.5(NPC1):c.66A>G (p.Ser22=)
|
rs144415945
|
0.00104
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00103
|
NM_000271.5(NPC1):c.631+17C>T
|
rs115397659
|
0.00083
|
NM_000271.5(NPC1):c.1553+18A>G
|
rs373017634
|
0.00041
|
NM_000271.5(NPC1):c.1170G>A (p.Leu390=)
|
rs369109734
|
0.00018
|
NM_000271.5(NPC1):c.2100C>T (p.Asp700=)
|
rs372517881
|
0.00016
|
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)
|
rs373435883
|
0.00015
|
NM_000271.5(NPC1):c.1695C>T (p.Phe565=)
|
rs373094778
|
0.00012
|
NM_000271.5(NPC1):c.501A>G (p.Ser167=)
|
rs202148667
|
0.00011
|
NM_000271.5(NPC1):c.3477+15A>G
|
rs369049242
|
0.00009
|
NM_000271.5(NPC1):c.1947+13_1947+14insT
|
rs1555634643
|
0.00007
|
NM_000271.5(NPC1):c.181-4A>C
|
rs374571310
|
0.00004
|
NM_000271.5(NPC1):c.2397C>T (p.Cys799=)
|
rs769196521
|
0.00003
|
NM_000271.5(NPC1):c.1088C>T (p.Ala363Val)
|
rs774588125
|
0.00001
|
NM_000271.5(NPC1):c.2778G>A (p.Ala926=)
|
rs754772486
|
0.00001
|
NM_000271.5(NPC1):c.956-11C>T
|
rs780491021
|
0.00001
|
NM_000271.5(NPC1):c.1947+10_1947+11insT
|
rs1555634677
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG
|
rs1555634618
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insT
|
rs1555634683
|
|
NM_000271.5(NPC1):c.3561G>A (p.Ala1187=)
|
rs55724504
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
NM_000271.5(NPC1):c.881+37C>G
|
rs142700149
|
|